Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein–Taybi and Filippi syndromes
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Genes, Free Full-Text
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Spectrum of CREBBP gene dosage anomalies in Rubinstein–Taybi Syndrome patients
Genetics and therapy for pediatric eye diseases - eBioMedicine
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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